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Items: 1 to 20 of 136

1.

Missense mutations affecting a conserved cysteine pair in the TH domain of Btk.

Vihinen M, Nore BF, Mattsson PT, Bäckesjö CM, Nars M, Koutaniemi S, Watanabe C, Lester T, Jones A, Ochs HD, Smith CI.

FEBS Lett. 1997 Aug 18;413(2):205-10.

4.

Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan.

Hashimoto S, Tsukada S, Matsushita M, Miyawaki T, Niida Y, Yachie A, Kobayashi S, Iwata T, Hayakawa H, Matsuoka H, Tsuge I, Yamadori T, Kunikata T, Arai S, Yoshizaki K, Taniguchi N, Kishimoto T.

Blood. 1996 Jul 15;88(2):561-73.

5.

Six X-linked agammaglobulinemia-causing missense mutations in the Src homology 2 domain of Bruton's tyrosine kinase: phosphotyrosine-binding and circular dichroism analysis.

Mattsson PT, Lappalainen I, Bäckesjö CM, Brockmann E, Laurén S, Vihinen M, Smith CI.

J Immunol. 2000 Apr 15;164(8):4170-7.

6.

Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course.

Holinski-Feder E, Weiss M, Brandau O, Jedele KB, Nore B, Bäckesjö CM, Vihinen M, Hubbard SR, Belohradsky BH, Smith CI, Meindl A.

Pediatrics. 1998 Feb;101(2):276-84.

PMID:
9445504
7.

X-linked agammaglobulinemia (XLA): a genetic tyrosine kinase (Btk) disease.

Mattsson PT, Vihinen M, Smith CI.

Bioessays. 1996 Oct;18(10):825-34. Review.

PMID:
8885720
8.

Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia.

Brooimans RA, van den Berg AJ, Rijkers GT, Sanders LA, van Amstel JK, Tilanus MG, Grubben MJ, Zegers BJ.

J Med Genet. 1997 Jun;34(6):484-8.

9.

X-chromosome inactivation and mutation pattern in the Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinemia. Italian XLA Collaborative Group.

Moschese V, Orlandi P, Plebani A, Arvanitidis K, Fiorini M, Speletas M, Mella P, Ritis K, Sideras P, Finocchi A, Livadiotti S, Rossi P.

Mol Med. 2000 Feb;6(2):104-13.

10.

DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia.

Vorechovský I, Vihinen M, de Saint Basile G, Honsová S, Hammarström L, Müller S, Nilsson L, Fischer A, Smith CI.

Hum Mol Genet. 1995 Jan;4(1):51-8.

PMID:
7711734
11.

Deletion within the Src homology domain 3 of Bruton's tyrosine kinase resulting in X-linked agammaglobulinemia (XLA).

Zhu Q, Zhang M, Rawlings DJ, Vihinen M, Hagemann T, Saffran DC, Kwan SP, Nilsson L, Smith CI, Witte ON, Chen SH, Ochs HD.

J Exp Med. 1994 Aug 1;180(2):461-70.

13.

Pleckstrin homology domains of tec family protein kinases.

Okoh MP, Vihinen M.

Biochem Biophys Res Commun. 1999 Nov;265(1):151-7.

PMID:
10548506
14.

BTK, the tyrosine kinase affected in X-linked agammaglobulinemia.

Vihinen M, Mattsson PT, Smith CI.

Front Biosci. 1997 Jan 1;2:d27-42. Review.

PMID:
9159207
15.

Structural basis of SH2 domain mutations in X-linked agammaglobulinemia.

Vihinen M, Nilsson L, Smith CI.

Biochem Biophys Res Commun. 1994 Dec 15;205(2):1270-7.

PMID:
7528500
16.

Bruton tyrosine kinase (BTK) in X-linked agammaglobulinemia (XLA).

Vihinen M, Mattsson PT, Smith CI.

Front Biosci. 2000 Dec 1;5:D917-28. Review.

PMID:
11102316
17.

BTKbase, mutation database for X-linked agammaglobulinemia (XLA)

Vihinen M, Belohradsky BH, Haire RN, Holinski-Feder E, Kwan SP, Lappalainen I, Lehväslaiho H, Lester T, Meindl A, Ochs HD, Ollila J, Vorechovsky I, Weiss M, Smith CI.

Nucleic Acids Res. 1997 Jan 1;25(1):166-71. Erratum in: Nucleic Acids Res 1997 May 1;25(9):1874.

18.

Solution structure of the SH3 domain from Bruton's tyrosine kinase.

Hansson H, Mattsson PT, Allard P, Haapaniemi P, Vihinen M, Smith CI, Hard T.

Biochemistry. 1998 Mar 3;37(9):2912-24.

PMID:
9485443
19.

Bruton's tyrosine kinase: cell biology, sequence conservation, mutation spectrum, siRNA modifications, and expression profiling.

Lindvall JM, Blomberg KE, Väliaho J, Vargas L, Heinonen JE, Berglöf A, Mohamed AJ, Nore BF, Vihinen M, Smith CI.

Immunol Rev. 2005 Feb;203:200-15. Review.

PMID:
15661031
20.

Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia.

Vihinen M, Zvelebil MJ, Zhu Q, Brooimans RA, Ochs HD, Zegers BJ, Nilsson L, Waterfield MD, Smith CI.

Biochemistry. 1995 Feb 7;34(5):1475-81.

PMID:
7849006

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